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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2387638563
Gene: RUNX1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.35641393_35641398delinsTATATA , CM000683.2:g.35641393_35641398delinsTATATA
GRCh38
NC_000021.8:g.37013691_37013696delinsTATATA , CM000683.1:g.37013691_37013696delinsTATATA
GRCh37
NC_000021.7:g.35935561_35935566delinsTATATA
NCBI36
NG_011402.2:g.348313_348318delinsTATATA , LRG_482:g.348313_348318delinsTATATA
Transcript Alleles
HGVS
Amino-acid change
ENST00000475045.6:c.-532+13422_-532+13427delinsTATATA
ENSP00000477072.1:n.-532+13422_-532+13427...
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