ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658668619
Gene: COL1A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
447136
ClinVar RCV Id:
RCV000517817
RCV002264705
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000079.2:p.Gly338Val
CA400221060
NM_000088.4:c.1013G>T