Canonical Allele Identifier: PA2741810259
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3013667
ClinVar RCV Id: RCV003873242
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Lys612Asn
CA8645063
NM_000088.4:c.1836A>T
CA400214838
NM_000088.4:c.1836A>C