ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658805454
Gene: CHMP1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
522948
ClinVar RCV Id:
RCV000626145
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002759.2:p.Glu116Lys
CA397433083
NM_002768.5:c.346G>A