Allele Registry

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.

Canonical Allele Identifier: PA645453860

Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 423428

ClinVar RCV Id: RCV000486920 RCV003766718

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000080.2:p.Gly352Ser	CA16618574 NM_000089.4:c.1054G>A