Canonical Allele Identifier: PA645452388
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 431028
ClinVar RCV Id: RCV000496033
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Gly1148Asp
CA400198947
NM_000088.4:c.3443G>A