ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645478302
Gene: CHMP1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
389909
ClinVar RCV Id:
RCV000430116
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001076783.1:p.Pro193Leu
CA8246916
NM_001083314.4:c.578C>T