Canonical Allele Identifier: PA341443
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17347
ClinVar RCV Id: RCV000018889 RCV000420639 RCV000685879 RCV000763407
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Arg1014Cys
CA341441
NM_000088.4:c.3040C>T