ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573060512
Gene: COL3A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
263818
ClinVar RCV Id:
RCV000249838
RCV000868023
RCV001189402
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000081.2:p.Ala170Thr
CA076651
NM_000090.4:c.508G>A