ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139695644
Gene: COL3A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
161218
ClinVar RCV Id:
RCV000157142
RCV000148461
RCV000417378
RCV000514567
RCV000659433
RCV000770605
RCV000664303
RCV003224168
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000081.2:p.Lys1313Arg
CA006759
NM_000090.4:c.3938A>G