Canonical Allele Identifier: PA2580104349
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1738497
ClinVar RCV Id: RCV002327708
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Asn1394del
CA984452345
NM_000088.4:c.4180_4182del