Canonical Allele Identifier: PA260307
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 35918
ClinVar RCV Id: RCV000537025 RCV000607797 RCV000608881 RCV000680480 RCV001125487 RCV002433474 RCV001125486 RCV001125488 RCV001535421 RCV002276575
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Pro978Ser
CA260305
NM_000088.4:c.2932C>T