Canonical Allele Identifier: PA645451813
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 324116
ClinVar RCV Id: RCV000285300 RCV000342628 RCV000392202 RCV000710774 RCV002521115
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Met217Leu
CA10650543
NM_000088.4:c.649A>T
CA400224832
NM_000088.4:c.649A>C