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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:
CA2508493782
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.2818575_2818578del , CM000686.2:g.2818575_2818578del
GRCh38
NC_000024.9:g.2686616_2686619del , CM000686.1:g.2686616_2686619del
GRCh37
NC_000024.8:g.2746616_2746619del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000679518.1:n.107-22911_107-22908del
ENST00000681787.1:n.107-22453_107-22450del
ENST00000681940.1:n.107-27071_107-27068del
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