ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA135228
Gene: DSP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
44891
ClinVar RCV Id:
RCV000038026
RCV000641814
RCV003531932
RCV004017317
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004406.2:p.Ala1047Val
CA005749
NM_004415.4:c.3140C>T