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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
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Canonical Allele Identifier:
CA1629703509
Gene: HMGCLL1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.55608511_55608512delinsTC , CM000668.2:g.55608511_55608512delinsTC
GRCh38
NC_000006.11:g.55473309_55473310delinsTC , CM000668.1:g.55473309_55473310delinsTC
GRCh37
NC_000006.10:g.55581268_55581269delinsTC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XM_011514701.1:c.-279-66372_-279-66371delinsGA
XP_011513003.1:n.-279-66372_-279-66371del...
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