Canonical Allele Identifier: PA658804231
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 526872
ClinVar RCV Id: RCV000631503 RCV001584459 RCV004547778
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Pro378Ala
CA8645389
NM_000088.4:c.1132C>G