Canonical Allele Identifier: PA257901
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17330
ClinVar RCV Id: RCV000018871 RCV000518360 RCV001245193
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Gly1040Ser
CA257899
NM_000088.4:c.3118G>A