ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573060454
Gene: COL1A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1306911
ClinVar RCV Id:
RCV001772369
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000079.2:p.Thr1381Ala
CA291542797
NM_000088.4:c.4141A>G